Allen S J, O'Donnell A, Alexander N D, Alpers M P, Peto T E, Clegg J B, Weatherall D J
Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom.
Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14736-41. doi: 10.1073/pnas.94.26.14736.
In the South West Pacific region, the striking geographical correlation between the frequency of alpha+-thalassemia and the endemicity of Plasmodium falciparum suggests that this hemoglobinopathy provides a selective advantage against malaria. In Vanuatu, paradoxically, alpha+-thalassemia increases the incidence of contracting mild malaria in the first 2 years of life, but severe disease was too uncommon to assess adequately. Therefore, we undertook a prospective case-control study of children with severe malaria on the north coast of Papua New Guinea, where malaria transmission is intense and alpha+-thalassemia affects more than 90% of the population. Compared with normal children, the risk of having severe malaria was 0.40 (95% confidence interval 0.22-0.74) in alpha+-thalassemia homozygotes and 0.66 (0.37-1.20) in heterozygotes. Unexpectedly, the risk of hospital admission with infections other than malaria also was reduced to a similar degree in homozygous (0. 36; 95% confidence interval 0.22-0.60) and heterozygous (0.63; 0. 38-1.07) children. This clinical study demonstrates that a malaria resistance gene protects against disease caused by infections other than malaria. The mechanism of the remarkable protective effect of alpha+-thalassemia against severe childhood disease remains unclear but must encompass the clear interaction between this hemoglobinopathy and both malarial and nonmalarial infections.
在西南太平洋地区,α+地中海贫血的发病率与恶性疟原虫的流行程度之间存在显著的地理相关性,这表明这种血红蛋白病对疟疾具有选择性优势。然而,在瓦努阿图,α+地中海贫血却增加了儿童在生命最初两年感染轻度疟疾的发病率,但严重疾病极为罕见,无法进行充分评估。因此,我们在巴布亚新几内亚北海岸对患有严重疟疾的儿童进行了一项前瞻性病例对照研究,该地疟疾传播强烈,α+地中海贫血影响着超过90%的人口。与正常儿童相比,α+地中海贫血纯合子患严重疟疾的风险为0.40(95%置信区间0.22 - 0.74),杂合子为0.66(0.37 - 1.20)。出乎意料的是,纯合子(0.36;95%置信区间0.22 - 0.60)和杂合子(0.63;0.38 - 1.07)儿童因疟疾以外的感染而住院的风险也降低到了相似程度。这项临床研究表明,一种抗疟疾基因对疟疾以外的感染所导致的疾病具有保护作用。α+地中海贫血对儿童严重疾病具有显著保护作用的机制尚不清楚,但肯定涉及这种血红蛋白病与疟疾和非疟疾感染之间的明确相互作用。